Nucleotide change | Mutation type | Protein change | Reference |
c.? | Deletion | p.0 | [15] |
c.24A > T | Missense | p.Lys8Ans | [16] |
c.31_50del20 | Deletion | p.Leu11Glyfs*20 | [17] |
c.37delC | Deletion | p.Leu13Cysfs*2 | [18] |
c.50dupT | Duplication | p.Leu17Phefs*21 | [19] |
c.50_53delTGGT | Deletion | p.Leu*17 | [20] |
c.61 + 1G > A | Missense | p.? | [14] |
c.61 + 10G > A | Splice Site | p.? | [21] |
c.65delA | Deletion | p.Asp22Alafs*3 | [14] |
c.69delT | Deletion | p.Val24* | [14] |
c.74_78delAGCCGins176bp | Delins | p.? | [19] |
c.81dupT | Duplication | p.Arg28Serfs*10 | [22] |
c.86delG | Deletion | p.Gly29Alafs*4 | [23] |
c.88C > T | Missense | p.Pro30Ser | [24] |
c.95T > G | Missense | p.Val32Gly | [25] |
c.100dupT | Duplication | p.Cys34Leufs*4 | [19] |
c.100_115del16 | Deletion | p.Cys34Hisfs*15 | [26] |
c.101G > A | Missense | p.Cys34Tyr | [24] |
c.102C > A | Missense | p.Cys34* | [25] |
c.106T > C | Missense | p.Cys36Arg | [14] |
c.107G > A | Missense | p.Cys36Tyr | [27] |
c.115_118dupCCAC | Duplication | p.His40Profs*130 | [28] |
c.121T > C | Missense | p.Cys41Arg | [28] |
c.128_132delGGCCT | Deletion | p.Gly43Aspfs*124 | [29] |
c.129delG | Deletion | p.Pro44Leufs*10 | [14] |
c.136_137delTGinsCT | Delins | p.Cys46Leu | [29] |
c.138C > A | Missense | p.Cys46* | [19] |
c.139_140insCG | Insertion | p.Arg47Profs*8 | [30] |
c.139dupC | Duplication | p.Arg47Profs*122 | [24] |